Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S1__MITNGS_S1_
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV et al.
Clinical Genetics, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
ter Veld F et al.
Plos One, 2009
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
Waddell L et al.
Molecular Genetics and Metabolism, 2006
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS et al.
American Journal of Human Genetics, 2001
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